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Aortic root dilatation associated with partial trisomy 7(q31.2----qter)

K B Roche1, J W Moore, R B Surana

  • 1Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC 20307-5001.

Pediatric Cardiology
|January 1, 1989
PubMed

Insights

Cardiac anomalies like aortic root dilatation and mitral valve prolapse can occur in connective tissue disorders. A rare chromosomal abnormality, partial trisomy 7 and partial monosomy 22, was observed in an infant with these findings.

Area of Science:

  • Genetics
  • Cardiology
  • Developmental Biology

Background:

  • Connective tissue disorders, such as Marfan syndrome, are frequently associated with cardiac abnormalities.
  • Aortic root dilatation and mitral valve prolapse are common cardiac manifestations in these conditions.

Observation:

  • This report details an infant presenting with both aortic root dilatation and mitral valve prolapse.
  • The infant also exhibited a specific chromosomal abnormality: partial trisomy of chromosome 7 and partial monosomy of chromosome 22.

Findings:

  • The co-occurrence of these specific cardiac anomalies and the identified chromosomal abnormality (partial trisomy 7/partial monosomy 22) is noteworthy.
  • This case highlights a potential link between genetic factors and cardiac manifestations in connective tissue disorders.

Implications:

  • The observed association may offer insights into the underlying etiology of cardiac disease in connective tissue disorders, including Marfan syndrome.
  • Further research into this chromosomal abnormality could elucidate genetic pathways involved in cardiovascular development and disease.

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